High-risk newborns and pervasive developmental disorders

Aim of the paper: Analysis of developmental abilities in high-risk infants, with an emphasis on risk, early screening and early diagnosis of disorders of the autistic spectrum (ASD). Materials and methods: Between January 2013 and December 2015, a total number of 612 high - risk infants, were followed as outpatients at  the Clinic for neurology and development. We used Griffiths developmental scales for assessment of developmental abilities and M-CHAT (Modified Checklist for Autism in Toddlers) when there was a suspicion for ASD. Results: In 4,4% of the children disorder in the field of socialization, social development and speech, as well as symptoms of ASD were found. The median age of the infants during examination was 23 months. Each child had a normal neurological status. Using the developmental tests, Griffiths developmental scales, the examined children, showed normal development of gross motor skill and normal development of fine motor skills. The developmental coefficient in the area of social development was 64%, and 44% in the area of speech. Four children showed clear signs of sensory integration dysfunction. 3,3% of children with symptoms of ASD were conceived with IVF, were twins and were preemies. Conclusion: The goal of developmental follow-up and developmental diagnostics should be establishing the risk and symptoms of ASD in high - risk children, especially in premature infants and twins.Цел на трудот: Ðнализа на развојните ÑпоÑобноÑти кај виÑокоризичните новородени Ñо акцент на ризикот, раниот Ñкрининг и раната дијагноÑтика на нарушувањата од аутиÑтичниот Ñпектар (ASD). Материјал и методи:  Ð’о периодот  Ð¾Ð´ јануари 2013 година до декември 2015 година, 612 виÑокоризич- ни деца поминале низ Ðевролошко-развојната амбуланта при УниверзитетÑката клиника за детÑки болеÑти во Скопје. Извршена е проценка на развојните ÑпоÑобноÑти на Ñекое дете Ñо примена на раз- војниот теÑÑ‚, Griffiths developmental scales како и примена на M-CHAT ( Modified Checklist for Autism in Toddlers) во Ñкринирањето на деца на возраÑÑ‚ од 16 до 30 меÑеци при Ñомение за аутиÑтичен Ñпектар на нарушувања. Резултати: Кај 4,4% од децата конÑтатирани Ñе отÑтапувања во Ñоцијалниот развој и говорот, одÑтапувања во полето на Ñоцијализација и Ñимптоми за ASD. Децата Ñе на Ñредна возраÑÑ‚ од 23 меÑеци. Сите деца Ñе Ñо уреден невролошки ÑтатуÑ. Ðа развојните теÑтови, Griffiths developmental scales, покажуваат уреден развој на крупна моторика и уреден развој на фина моторика. Развојниот коефициент во облаÑта на Ñоцијалниот развој изнеÑува  64%, а во облаÑта на говорот 44%. Четири деца покажуваат јаÑни знаци за диÑфункција на Ñензорната интеграција. 3,3% од децата  Ñо елементи на ASD Ñе од вештачко оплодување -IVF, близначка бременоÑÑ‚ и предвремено породување. Заклучок: Целта на развојното Ñледење и развојната дијагноÑтика треба да биде утврдување на ризикот, како и навремено откривање на Ñимптомите за ASD кај виÑоко ризичните деца, оÑобено кај недоноÑените и близнаците

ASPHYXIA AND DEVELOPMENTAL OUTCOME IN HIGH RISK INFANTS

Asphyxia is a risk factor that is very often related to neuro-developmental issues in high risk infants and equally affects preterm and term infants, however its outcome on the developed brain differs from the outcome on the preterm brain.In preterm infants, asphyxia usually exerts a hemorrhagic or ischaemic event and periventricular leukomalacia.In term infants, asphyxia leads to cerebral edema and atrophy of the brain, which may later lead to hypoxic ischaemic encephalopathy (HIE).The number of term infants with HIE who have survived is lower than those of preterm infants, while the percentage of term infants with HIE who have neuro-developmental issues is higher. Preemies face more problems in their motor development as a result of the brain damage, while term infants suffer from encephalopathy and their cognitive abilities are more affected.We have conducted a study about the effects that asphyxia has on the developmental outcomes in high risk infants. In our study, we did a longitudinal developmental follow-up of 30 high risk infants and an evaluation of their developmental outcome using the Griffiths Mental Development Scales, from the 4th month of life until the end of the 36th month. First, we found that high risk infants had a much lower developmental outcome than the control group during the trial. Finally, we found that asphyxia makes a difference in the developmental outcome of preterm infants without asphyxia who have a very low birth weight, the preterm infants with asphyxia, and the term infants with HIE-II

LAMA2–ASSOCIATED CONGENITAL MUSCULAR DYSTROPHY: CASE REPORT

Introduction: LAMA2 Associated Muscular Dystrophy (LAMA2-RD) is one of the most common forms of congenital muscular dystrophy worldwide. Mutations in the LAMA2 gene affect the production of the α2 subunit of lamin-211 (merosine) and result in partial or complete deficiency of lamin-211. Inheritance is usually autosomal recessive.Case report: We present a patient who is dual heterozygous for two pathogenic variants in the LAMA2 gene, as demonstrated by targeted resection of 4800 clinically significant genes. c.4474dupT, p. (Tyr1492LeufsTer11), inherited from the mother and c.7732C> T, p. (Arg2578Ter), inherited from the father. With this genotype the patient is confirmed autosomal recessive disease, LAMA2-RD. Variant c.4474dupT, p. (Tyr1492LeufsTer11), in exon 31 of the LAMA2 gene, is a change that has not been reported in the literature.Conclusion: Genetic confirmation of the diagnosis is important for genetic counseling, prenatal diagnosis for each subsequent pregnancy in the family because the risk of an affected child is 25%.Keywords: LAMA2 associated muscular dystrophy, genetic testing of clinically relevant genes, genetic counseling

PSYCHOMOTOR DEVELOPMENT IN PREMATURE INFANTS UNTIL THE END OF THEIR THIRD YEAR OF LIFE

Psychomotor development in premature infants has specific characteristics with increased tendency towards neuro-developmental difficulties, such as the fact that certain percent of the developmentally challenged people belongs in this category of children.Many factors contribute to the neuro-developmental difficulties in premature infants. A large number of studies have shown that the birth weight (BW) and gestational age (GA) have strong correlation with the neuro-developmental outcome.In order to establish the general developmental outcome and the developmental outcome in specific areas of early development, that is the first three years of life in preemies, we have conducted a research on our own population. We conducted a longitudinal study on 20 premature newborns with very low birth weight (VLBW), with a follow-up period from 4 weeks CGA until 36 weeks GA.The research results showed that the largest difference in developmental areas between the group of premature infants with VLBW and the control group is present at the end of the 36th month of life and the general development quotient (GDQ) in the premature group was significantly lower during the whole follow-up period, except at the end of month 4 - in different developmental areas. We also concluded that 20% of the premature infants with VLBW have developmental difficulties and severe difficulties in their motor development